A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv831055



Internal ID16108238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:88853242..89031460hg38UCSC Ensembl
Outerchr7:88482556..88660774hg19UCSC Ensembl
Outerchr7:88320492..88498710hg18UCSC Ensembl
Outerchr7:88127207..88305425hg17UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg38178219
hg19178219
hg18178219
hg17178219
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1446266, nssv1446267
Samples
Known GenesZNF804B
MethodBAC aCGH
AnalysisExperimental SDs (SDautosome) were calculated for each experiment on the basis of the log2 ratios of the 24,392 reliable clones minus the clones removed because of low signal-to-noise ratio (SNR) or high SD of replicate clone measures (SDclone). Thresholds for determining CNV clones were set at a multiple of the SDautosome value. For each experiment, clones were annotated as uninformative if they were filtered via SNR or SDclone, as a CNV loss if the log2 ratio was less than the negative threshold, as unchanged if the log2 ratio was between the negative and positive thresholds, and as a CNV gain if the log2 ratio was above the positive threshold.
PlatformGPL2616
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv831055
Frequency
Sample Size95
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer